ClinVar Miner

Submissions for variant NM_001271.4(CHD2):c.1038C>T (p.Asp346=)

gnomAD frequency: 0.00008  dbSNP: rs148706063
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001712380 SCV000525726 likely benign not provided 2018-08-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000552743 SCV000654308 likely benign Developmental and epileptic encephalopathy 94 2024-11-12 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001712380 SCV001961542 likely benign not provided 2021-08-01 criteria provided, single submitter clinical testing

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